Canonical Allele Identifier: CA204157

Gene: SNAPC4

Linked Data

• ClinVar Variation Id: 207897
• ClinVar RCV Id: RCV000190178
• dbSNP Id: rs771245174
• ExAC: 9:139272344 C / T
• gnomAD v2: 9-139272344-C-T
• gnomAD v3: 9-136377892-C-T
• gnomAD v4: 9-136377892-C-T
• MyVariant Identifiers: chr9:g.139272344C>T (hg19) ; chr9:g.136377892C>T (hg38)
• PubMed: PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136377892C>T , CM000671.2:g.136377892C>T	GRCh38
NC_000009.11:g.139272344C>T , CM000671.1:g.139272344C>T	GRCh37
NC_000009.10:g.138392165C>T	NCBI36
NG_021197.1:g.790G>A , LRG_178:g.790G>A
NG_051233.1:g.27329G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000637388.2:c.3935G>A	ENSP00000490037.2:p.Arg1312Gln
ENST00000684778.1:c.3935G>A MANE Select	ENSP00000510559.1:p.Arg1312Gln
ENST00000689006.1:c.*3148G>A	ENSP00000509362.1:n.*3148G>A
ENST00000298532.2:c.3935G>A	ENSP00000298532.2:p.Arg1312Gln
NM_003086.2:c.3935G>A	NP_003077.2:p.Arg1312Gln
XM_005266096.1:c.3935G>A	XP_005266153.1:p.Arg1312Gln
XM_006717241.1:c.3935G>A	XP_006717304.1:p.Arg1312Gln
XM_006717242.2:c.3935G>A	XP_006717305.1:p.Arg1312Gln
XM_006717243.2:c.3851G>A	XP_006717306.1:p.Arg1284Gln
XM_006717244.2:c.2147G>A	XP_006717307.1:p.Arg716Gln
NM_003086.3:c.3935G>A	NP_003077.2:p.Arg1312Gln
XM_005266096.3:c.3935G>A	XP_005266153.1:p.Arg1312Gln
XM_006717241.3:c.3935G>A	XP_006717304.1:p.Arg1312Gln
XM_006717242.4:c.3935G>A	XP_006717305.1:p.Arg1312Gln
XM_017015058.2:c.3851G>A	XP_016870547.1:p.Arg1284Gln
XR_001746368.1:n.5476G>A
NM_001394201.1:c.3935G>A	NP_001381130.1:p.Arg1312Gln
NM_001394202.1:c.3851G>A	NP_001381131.1:p.Arg1284Gln
NM_001394203.1:c.3851G>A	NP_001381132.1:p.Arg1284Gln
NM_003086.4:c.3935G>A MANE Select	NP_003077.2:p.Arg1312Gln